A SULLEN SPILL FROM SKIN TO EYES: A RARE CASE OF STURGE-WEBER SYNDROME

Abstract

Sturge-Weber Syndrome (SWS) is a rare and complex neurocutaneous disorder characterized by the presence of facial port-wine stain (nevus flammeus) and leptomeningeal angiomas. We present a unique and challenging case of Sturge-Weber Syndrome in a 6-year-old male with the hallmark facial port-wine stain and ocular manifestations. The patient presented with recurrent seizures and visual disturbances, prompting a thorough clinical evaluation. Magnetic resonance imaging (MRI) revealed leptomeningeal angiomas, confirming the diagnosis of SWS. This case highlights the importance of early recognition and multidisciplinary management to optimize patient outcomes and quality of life in individuals with Sturge-Weber Syndrome.

Keywords:

Sturge-Weber Syndrome, neurocutaneous disorder, port-wine stain

References

Comi AM. Update on Sturge–Weber syndrome: diagnosis, treatment, quantitative measures, and controversies. Lymphat Res Biol 2007; 5:257–264.

Abdolrahimzadeh S, Scavella V, Felli L, et al. Ophthalmic alterations in the Sturge Weber syndrome, Klippel Trenaunay syndrome and the phakomatosis pigmentovascularis: an independent group of conditions? Biomed Res Int. 2015; Article ID 786519:11 pages.

Mantelli F, Bruscolini A, La Cava M, Abdolrahimzadeh S, Lambiase A. Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and management. Clin Ophthalmol. 2016 May 13; 10:871-8.

Rihani HT, Dalvin LA, Hodge DO, Pulido JS. Incidence of Sturge-Weber syndrome and associated ocular involvement in Olmsted County, Minnesota, United States. Ophthalmic Genet.

Sener RN. Sturge-Weber syndrome: a patient with a cervical port-wine nevus. Comput Med Imaging Graph. 1997 Nov-Dec. 21(6):359-60.

Enjolras O, Riche MC, Merland JJ. Facial port-wine stains and Sturge-Weber syndrome. Pediatrics. 1985 Jul. 76(1):48-51.

Silverstein M, Salvin J. Ocular manifestations of Sturge-Weber syndrome. Curr Opin Ophthalmol.

Doucette LP, Rasnitsyn A, Seifi M, Walter MA. The interactions of genes, age, and environment in glaucoma patholgenesis. Surv Ophthal- mol. 2015; 60:310–326.